A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia.

Barbara Foglieni, Silvia Galbiati, Maurizio Ferrari, Laura Cremonesi

Research output: Contribution to journalArticle

Abstract

The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases.

Original languageEnglish
Pages (from-to)169-182
Number of pages14
JournalMethods in molecular biology (Clifton, N.J.)
Volume444
Publication statusPublished - 2008

Fingerprint

beta-Thalassemia
Prenatal Diagnosis
Mutation
beta-Globins
DNA Probes
Sickle Cell Anemia
Quality Control
Single Nucleotide Polymorphism
Complementary DNA
Fluorescence
Genome
Technology
DNA
Population
Genes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia. / Foglieni, Barbara; Galbiati, Silvia; Ferrari, Maurizio; Cremonesi, Laura.

In: Methods in molecular biology (Clifton, N.J.), Vol. 444, 2008, p. 169-182.

Research output: Contribution to journalArticle

@article{85fbaca5d34d4e9e91723b3572b68a5c,
title = "A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia.",
abstract = "The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases.",
author = "Barbara Foglieni and Silvia Galbiati and Maurizio Ferrari and Laura Cremonesi",
year = "2008",
language = "English",
volume = "444",
pages = "169--182",
journal = "Methods in Molecular Biology",
issn = "1064-3745",
publisher = "Humana Press",

}

TY - JOUR

T1 - A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia.

AU - Foglieni, Barbara

AU - Galbiati, Silvia

AU - Ferrari, Maurizio

AU - Cremonesi, Laura

PY - 2008

Y1 - 2008

N2 - The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases.

AB - The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases.

UR - http://www.scopus.com/inward/record.url?scp=44949221286&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=44949221286&partnerID=8YFLogxK

M3 - Article

C2 - 18425480

VL - 444

SP - 169

EP - 182

JO - Methods in Molecular Biology

JF - Methods in Molecular Biology

SN - 1064-3745

ER -